Condition report · Dermatological
A group of genetic disorders characterized by the abnormal development of two or more ectodermal structures, including the skin, hair, nails, teeth, and sweat glands.
A condition report looks for rare variants known to cause the conditions it covers.
Součástí tarifů Premium a Premium + AI
Co vaše zpráva obsahuje
Autozomálně recesivní
Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene.
Analyzované geny
Známé také jako
ECTD4; KRT85 pure hair and nail ectodermal dysplasia; pili torti onychodysplasia; pure hair and nail ectodermal dysplasia caused by mutation in KRT85; twisted hair with nail dysplasias
A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).
Známé také jako
anhidrotic ectodermal dysplasia; anhidrotic ectodermal dysplasia 1; anhidrotic ectodermal dysplasia 3; CST syndrome; ectodermal dysplasia 1, Anhydrotic; ectodermal dysplasia anhidrotic; ectodermal dysplasia, hypohidrotic; EDA; HED; hypohidrotic X-linked ectodermal dysplasia
Autozomálně dominantní
Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene.
Analyzované geny
Známé také jako
ECTD12; ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12; ectodermal dysplasia syndrome caused by mutation in KDF1; KDF1 ectodermal dysplasia syndrome
Autozomálně dominantní
A GJB6 ectodermal dysplasia with hair loss, nail thickening and thickened palms and soles, with normal sweating and teeth.
Analyzované geny
Známé také jako
alopecia, dysplastic nails, palmar and plantar hyperkeratosis; autosomal dominant hidrotic ectodermal dysplasia; ectodermal dysplasia, hidrotic; ectodermal dysplasia, hidrotic, 2; ED2; hidrotic ectodermal dysplasia; hidrotic ectodermal dysplasia, autosomal dominant; palmoplantar hyperkeratosis and alopecia; Patel Bixler syndrome
A WNT10A disorder ranging from isolated missing teeth to odonto-onycho-dermal dysplasia with nail and skin changes.
Co se diagnózou změní
Early dental assessment helps plan treatment for missing teeth.
Analyzované geny
Autozomálně recesivní
A HOXC13 disorder causing absent or sparse hair and nail dystrophy.
Analyzované geny
Známé také jako
ECTD9; HOXC13 pure hair and nail ectodermal dysplasia; pure hair and nail ectodermal dysplasia caused by mutation in HOXC13
Autozomálně recesivní
A KREMEN1 disorder with sparse hair and missing teeth.
Analyzované geny
Známé také jako
ECTD13
Autozomálně recesivní
A TSPEAR disorder with missing teeth and sparse hair, sometimes with reduced sweating.
Analyzované geny
Známé také jako
ECTD14
Autozomálně recesivní
A CST6 disorder with sparse hair and reduced sweating.
Analyzované geny
Známé také jako
ECTD15
Autozomálně dominantní
A LEF1 disorder with sparse hair, dental anomalies and sometimes limb differences.
Analyzované geny
Autozomálně dominantní
TP63 conditions combining ectodermal dysplasia with cleft lip or palate and limb malformations, including AEC, Rapp-Hodgkin, ADULT and EEC syndromes.
Analyzované geny
Autozomálně dominantní
A TP63 disorder with hand and foot malformations and underdeveloped breasts or nipples.
Analyzované geny
Známé také jako
LMS; mammary hypoplasia, ectrodactyly, and other hand/foot anomalies
Autozomálně recesivní
A NECTIN1 disorder combining cleft lip or palate with hair, tooth and nail anomalies.
Analyzované geny
Známé také jako
autosomal recessive ectodermal dysplasia; Bustos Simosa pinto Cisternas syndrome; cleft lip/palate-syndactyly-pili torti; cleft lip/palate-syndactyly-pili torti syndrome; CLEPD; CLPED1; ectodermal dysplasia margarita island type; ectodermal dysplasia type 4; ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly; ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly; ED4; syndactyly-ectodermal dysplasia-cleft/lip palate; Zlotogora syndrome; Zlotogora-Ogur syndrome
Autozomálně recesivní
A NECTIN4 disorder with sparse hair, tooth anomalies and fused fingers or toes.
Analyzované geny
Známé také jako
ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4; EDSS1; NECTIN4 ectodermal dysplasia-syndactyly syndrome
Autozomálně dominantní
A KRT14 disorder with net-like skin pigmentation, reduced sweating, absent fingerprints and thickened palms and soles.
Co se diagnózou změní
Heat precautions help because sweating is reduced.
Analyzované geny
Známé také jako
Naegeli syndrome; NFJ syndrome; NFJS; reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
Autozomálně dominantní
A KRT14 disorder with net-like pigmentation, hair thinning, absent fingerprints and nail changes.
Analyzované geny
Známé také jako
DPR
Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.
Doprava zdarma · Výsledky za 6–8 týdnů
Tarif Premium přidá 99 $ za sadu v prvním roce.
